Jouret Guillaume

Clinical Geneticist - Medical Doctor | 🇱🇺 LNS Luxembourg |

🌐 #MedicalGenetics
🌐 #RareDiseases
🌐 #ClinicalResearch

[Jouret Guillaume @JouretG]

Dear #friends, I was very happy to present during #ESHG2023 in #Glasgow our collaborative work on prenatal-onset HCM in patients with #RASopathies! Thanks to all our collaborators and our team at @LNS_Lux!

https://t.co/Js4H1e5I5i

#Genetics #ResearchLuxembourg #Research

[Jouret Guillaume @JouretG]

Dear #colleagues and #friends,
I am very happy to share our new paper on a new #genetic disorder, the #19p13.3 Proximal Microduplication Syndrome!
Thanks to our #team at @LNS_Lux and CHU de Reims, and all our co-authors!
#ResearchLuxembourg #DoctoraLux
https://t.co/ySiA43Wnvc

[LNS - Laboratoire national de santé @LNS_Lux]

🆕📰New scientific publication from the National Center of Genetics of the @LNS_Lux "Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study". 👉https://t.co/BSkFrRyNtI #research #Luxembourg #genetics #rarediseases

[Jouret Guillaume @JouretG]

Our publication on the new #BRD4-related disorder is now available:)
Many thanks to the @ERNIthaca , @AnddiRares, @GeneMatcher, @LNS_Lux , @ClinGenetNews and to all the teams who worked with us!

https://t.co/qMyqZBI7Lc

[Jouret Guillaume @JouretG]

Thanks @ClinGenetNews for sharing! We report the first cohort of #patients with the new #BRD4-related disorder, broadening the phenotype with particular emphasis on a new clinically relevant and recognizable core pattern, distinguishable from the other #cohesinopathies!

[ClinGenetNews @ClinGenetNews]

https://t.co/nClvTbITRw

[Jouret Guillaume @JouretG]

Guidelines WGS 2022: Recommendations for whole genome sequencing in diagnostics for rare diseases
#genetics #clinicalresearch #genome #EJHG
https://t.co/BXmfGSPLNf

[LNS - Laboratoire national de santé @LNS_Lux]

Dr Guillaume Jouret, from the National Center of Genetics of the @LNS_Lux, presented an international collaborative #research work on the occasion of the Assises de Génétique. #healthcare #Luxembourg https://t.co/WZ0md6dqrj

[Jouret Guillaume @JouretG]

Clinicians and researchers are gaining access to thousands of structural variants of unknown disease relevance. A supervised learning method to predict the pathogenicity of human genome structural variants:

https://t.co/yYJVIIP7AD

[Jouret Guillaume @JouretG]

Should all babies have their genome sequenced at birth?
#bmj #WGS #genome #medicalgenetics
https://t.co/ICGxIpelg7

[Jouret Guillaume @JouretG]

Do patients understand the concepts of VUS and variant reclassification after a clinical genetics consultation?
#clinicalgenetics #humangenetics
#VUS

https://t.co/9tjozZlv5k

[Jouret Guillaume @JouretG]

Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it?
https://t.co/nnQDPz4hyE

[Jouret Guillaume @JouretG]

Proud to present our international collaborative study “Understanding the new BRD4-related Cornelia de Lange-like syndrome: clinical and genomic delineation” at the #ESHG2021 congress! Have a look at our poster P11.022.D! Thanks #LNS_Lux team and #ERNITHACA network!

[LNS - Laboratoire national de santé @LNS_Lux]

Yesterday, @JouretG , doctor specialized in clinical #genetics at @LNS_Lux National Center of Genetics, gave a seminar at the @CHL_Luxembourg on #dysmorphology https://t.co/HQiLrmm1hH

[Jouret Guillaume @JouretG]

Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach?

https://t.co/vhPBmAOmL3

[Jouret Guillaume @JouretG]

We already knew that mitochondria can translocate from one cell to the other, and now blood contains circulating cell‐free functional mitochondria in normal physiological state: how could the understanding of mitochondrial diseases be even more complex?

https://t.co/7V5EzLEByA

[Jouret Guillaume @JouretG]

Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics https://t.co/bwxUrm2PCA

[Jouret Guillaume @JouretG]

RNA splicing is thought to be disrupted by up to 62% of all pathogenic SNVs, and 48% of ClinVar variants are asserted to be VUS. RNA analysis should therefore be routinely considered in genetic disease diagnostics. https://t.co/dv5NNmYHX9

[Jouret Guillaume @JouretG]

Re-evaluating the first-tier status of fragile X testing in neurodevelopmental disorders
https://t.co/geAS19krWv

[Jouret Guillaume @JouretG]

New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells

https://t.co/00aScZapr1

[Jouret Guillaume @JouretG]

An approach to integrating exome sequencing for fetal structural anomalies into clinical practice
https://t.co/oUyOAUSw6C